CSGALNACT1
Summary: This gene encodes an enzyme that transfers N-acetylglucosamine (GalNAc) to the core tetrasaccharide linker and to elongating chondroitin sulfate chains in proteoglycans. Knockout of the orthologous mouse gene indicates that the protein is necessary for normal cartilage development and aggrecan metabolism. Mutations in this gene are associated with multiple sclerosis progression, and with mild skeletal dysplasia and joint laxity. [provided by RefSeq, Aug 2017].
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Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:616615 Ensembl IDEnsembl:ENSG00000147408 HGNC IDHGNC:HGNC:24290 PHARMGKB IDPA162382829 Map Location8p21.3 | |||||
GO terms in CSGALNACT1
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Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IDA | GO:0008376 | acetylgalactosaminyltransferase activity |
| MF | ISS | GO:0008376 | acetylgalactosaminyltransferase activity |
| MF | IDA | GO:0008955 | peptidoglycan glycosyltransferase activity |
| MF | IDA | GO:0015020 | glucuronosyltransferase activity |
| MF | NAS | GO:0046872 | metal ion binding |
| MF | IDA | GO:0047237 | glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity |
Gene expression in normal tissue: CSGALNACT1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in CSGALNACT1
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Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-1430728 | Metabolism |
| reactome | R-HSA-1630316 | Glycosaminoglycan metabolism |
| reactome | R-HSA-1793185 | Chondroitin sulfate/dermatan sulfate metabolism |
| reactome | R-HSA-2022870 | Chondroitin sulfate biosynthesis |
| reactome | R-HSA-71387 | Metabolism of carbohydrates |
| kegg | hsa00532 | Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate - Homo sapiens (human) |
Gene-Drug: Aster Plot
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Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD309 | 17AAG | 1 |
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Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in CSGALNACT1
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Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
CLASSFICATION
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